SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS786205675 HPCA Health Risk Pathogenic Torsion dystonia 2, Torsion dystonia 2
RS786205676 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS786205677 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS786205679 AFF4 Health Risk Pathogenic/Likely pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
RS786205680 AFF4 Health Risk Pathogenic/Likely pathogenic Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
RS786205688 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS786205697 CENPF Health Risk Pathogenic Stromme syndrome, Stromme syndrome
RS786205698 TTC7A Health Risk Pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS786205699 TXNL4A Health Risk Pathogenic/Likely pathogenic Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome, TXNL4A-related disorder
RS786205702 RTEL1 Health Risk Pathogenic/Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis and/or bone marrow failure
RS786205703 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS786205704 JAGN1 Health Risk Conflicting classifications of pathogenicity Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
RS786205705 JAGN1 Health Risk Pathogenic Severe congenital neutropenia, Severe congenital neutropenia
RS786205707 AKAP9 Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, Long QT syndrome
RS786205709 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS786205712 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS786205713 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS786205724 ANK2 Health Risk Conflicting classifications of pathogenicity ANK2-related disorder, ANK2-related disorder
RS786205725 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS786205727 ANK2 Health Risk Conflicting classifications of pathogenicity Congestive heart failure, Congestive heart failure
RS786205741 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS786205742 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS786205745 CACNA1C Health Risk Pathogenic Timothy syndrome, Long QT syndrome
RS786205748 CACNA1C Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome 8
RS786205753 CACNA1C Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 8
RS786205755 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Autism spectrum disorder
RS786205759 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS786205771 CACNA1C Health Risk Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS786205773 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS786205776 CACNA1C Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS786205779 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS786205782 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Timothy syndrome
RS786205791 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS786205792 CASQ2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS786205795 CASQ2 Health Risk Pathogenic —
RS786205799 CASQ2 Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 2
RS786205811 KCNJ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Short QT syndrome type 3
RS786205812 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome
RS786205817 KCNJ2 Health Risk Likely pathogenic Short QT syndrome type 3, Andersen Tawil syndrome
RS786205818 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS786205820 KCNJ2 Health Risk Pathogenic/Likely pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS786205826 NKX2-5 Health Risk Pathogenic —
RS786205828 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS786205829 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Brugada syndrome 5
RS786205830 SCN1B Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 1
RS786205834 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Generalized epilepsy with febrile seizures plus
RS786205835 SCN1B Health Risk Likely pathogenic Brugada syndrome 5, Brugada syndrome 5
RS786205837 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS786205841 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 12
RS786205846 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS786205848 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 12
RS786205852 CABP4 Health Risk Pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS786205853 GNAT1 Health Risk Pathogenic Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
RS786205854 GNAT1 Health Risk Pathogenic Congenital stationary night blindness 1G, Congenital stationary night blindness 1G
RS786205855 IFT172 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 20, Retinitis pigmentosa 71
RS786205856 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Retinitis pigmentosa 71
RS786205857 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Retinitis pigmentosa 71
RS786205858 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Retinitis pigmentosa 71
RS786205859 TBL1XR1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 41
RS786205860 KCTD17 Health Risk Pathogenic Myoclonic dystonia 26, Myoclonic dystonia 26
RS786205861 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS786205862 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS786205864 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS786205865 EEF1A2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 38
RS786205866 EEF1A2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 38
RS786205867 KCND3 Health Risk Pathogenic/Likely pathogenic Brugada syndrome 9, Spinocerebellar ataxia type 19/22
RS786205868 TRPV3 Health Risk Pathogenic/Likely pathogenic Olmsted syndrome 1, Isolated focal non-epidermolytic palmoplantar keratoderma
RS786205869 TRPV3 Health Risk Pathogenic Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS786205870 COL6A3 Health Risk Conflicting classifications of pathogenicity Dystonia 27, Bethlem myopathy 1A
RS786205871 SUCLG1 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS786205872 PLOD3 Health Risk Pathogenic Bone fragility with contractures, arterial rupture
RS786205873 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS786205874 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS786205875 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS786205876 POR Health Risk Likely pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS786205878 POR Health Risk Pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS786205879 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS786205880 OSBPL2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
RS786205881 OSBPL2 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67
RS786205882 PNPLA8 Health Risk Pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS786205883 SCARF2 Health Risk Pathogenic Van den Ende-Gupta syndrome, Van den Ende-Gupta syndrome
RS786205884 OTX2 Health Risk Pathogenic Syndromic microphthalmia type 5, Syndromic microphthalmia type 5
RS786205885 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Congenital myasthenic syndrome
RS786205887 WNT3 Health Risk Likely pathogenic Bladder exstrophy-epispadias-cloacal extrophy complex, Bladder exstrophy-epispadias-cloacal extrophy complex
RS786205890 ORAI1 Health Risk Pathogenic Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency
RS786205892 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205895 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS786205896 FRMD7 Health Risk Pathogenic Nystagmus 1, congenital
RS786205897 COQ9 Health Risk Pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS786205899 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS786205900 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS786205901 XPR1 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS786205902 XPR1 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS786205903 XPR1 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS786205904 XPR1 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS786205905 MYH7 Health Risk Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS786205909 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS786205910 CNNM2 Health Risk Pathogenic Hypomagnesemia, seizures
RS78624439 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS78627723 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
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